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Dr. Felipe Santos

Inspired by two Alport patients who reached out to us in 2020, ASF is making a new and historic investment of $26,000 to better understand the cause of Alport syndrome-related hearing loss. This is an important first step in understanding if and/or how Alport hearing loss may potentially be treated or cured.

The project is being led by Dr. Felipe Santos (pictured), a physician, surgeon, and Interim Chief of Otology and Neurotology at Massachusetts Eye and Ear. Dr. Santos is also an Assistant Professor of Otolaryngology – Head and Neck Surgery, at Harvard Medical School.

Click here to learn about the groundbreaking new research project, made possible by funds contributed from Alport patients, families, and friends.

The human inner ear is inaccessible in life. Therefore, the study of donated ear specimens is critical to the understanding of hearing loss. Near the end of his life just over a year ago, Alport patient Timothy Fiscus sought to support hearing loss research in some way. This led ASF to establish communication with the National Temporal Bone Registry at Massachusetts Eye and Ear. Although circumstances beyond his control did not allow Mr. Fiscus to donate his own ear, his interest kindled ASF’s relationship with experts at the National Temporal Bone Registry.

Months later, when Jake Boyles, also an Alport patient, expressed a similar desire to support Alport research at the end of his life, Jake’s family contacted us. Jake’s remarkable October 2020 post-mortem gift of his temporal bone became the start of an ASF-funded research project. On behalf of the community of Alport patients and families, we extend our deepest gratitude to Timothy Fiscus, Jake Boyles, and their respective families for their incredible selflessness and generosity. We appreciate their efforts to reach out and coordinate with ASF.

To learn more about the National Temporal Bone Registry and how to make advance plans for anatomical gifts, contact: [email protected] or visit the Massachusetts Eye and Ear website.



In 2003, Donate Life America and partner organizations first designated the month of April as a time of gratitude for all those who have affected lives through organ donation and a time to encourage those in the U.S. to register as organ donors.

Today – 90,775 out of the 107,407 individuals on the National Waiting List require a kidney transplant, including Alport patients.

Click here to learn how to become an organ donor, support living donor rights, and hear directly from Alport kidney transplant recipients.



To help keep patients updated on new research, ASF volunteer Joseph Lagas, Doctoral Candidate in Molecular Biology (Washington University in St. Louis), provided summaries of two recently published articles.

To read the full summaries, click the blue button below. To read the published versions from scientific journals, click the hyperlinks.

Genotype–phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
Zhang, Yanqin et al.
Pediatric Nephrology, March 27, 2021.

This study attempts to understand autosomal recessive Alport syndrome patients progression toward kidney failure and if ACE and ARB inhibitors are effective at delaying kidney failure. The researchers found that this treatment was beneficial for these patients in extending their kidney function.

Metformin ameliorates the severity of experimental Alport syndrome
Omachi, Kohie et al.
Scientific Reports, March 29, 2021.

Results of this research show that metformin, a drug used in treatment of type 2 diabetics, could serve as a potential supplement or alternative to the current Alport syndrome standard of care (Angiotensin converting enzyme inhibitors and Angiotensin II receptor blockers).

Read the full summaries at this link.



As reported from ASF’s February 2021 “Diagnosis Stories” project, almost 70% of adult female Alport patients surveyed experienced disease symptoms despite being told they were “just a carrier” of Alport syndrome.

With Mother’s Day a few weeks away, please share these effective ways to educate and honor the moms, daughters, sisters, aunts, grandmothers, and other females in your life who are affected by Alport syndrome:

• Review ASF’s “Top 5” for Women page.

• Watch the new Female “Diagnosis Stories” Video.

Make a gift to ASF in Honor or in Memory of an Alport female. The ASF website now includes a page acknowledging all tribute gifts.



The 2021 ASF Webinar Recordings YouTube Playlist has been updated to include closed captioned recordings of:

• The March 24th “Alport syndrome and the Eyes: What Patients Need to Know” webinar featuring Drs. Al-Rabadi and Bernstein.

• The April 1st ASF / International Pediatric Nephrology Association’s co-presented “Alport Syndrome: Patient – Physician Perspectives” webinar featuring U.S. and international patients and physicians.

Additionally, the ASF website now includes brand new information on Alport-centric Eye Abnormalities, including a printable one-page patient guide for ophthalmology appointments. The guide, created with guidance from Drs. Al-Rabadi and Bernstein, is also available for quick access in the Resources section of the ASF Community App.



Blood Potassium Levels of 5.1 mEq/L and higher indicate hyperkalemia – a potentially dangerous complication which can result in fatigue, muscle cramps, and can even cause the heart to stop beating. May 1st (5.1) marks this annual Awareness Day.

High potassium can result from diet choices and from kidney-related medications, including ACE Inhibitors taken by a majority of Alport patients.

The American Association of Kidney Patients recently launched their “Are You O-K+?” campaign focusing on education about potassium.

Alport patients and families can also learn about potassium management and other aspects of the Renal Diet on the ASF Website.



Chinook Therapeutics announced on March 1, 2021, that the first patient has been dosed in the AFFINITY Study, a phase 2 clinical trial evaluating the efficacy and safety of atrasentan, a potent and selective inhibitor of the endothelin A receptor, in patients with proteinuric glomerular disease who are at risk of progressive loss of renal function.

Additionally, the AFFINITY Study active site list has been expanded to include 8 locations in the U.S. and one in Australia.
Visit the ASF Clinical Trials page for additional information.